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Analysis of endocrine hormone metabolism level in a Chinese patient with mucopolysaccharidosis IVA: A case report
RATIONALE: Mucopolysaccharidosis IVA (Morquio A) is a catabolic mucopolysaccharide disorder caused by galactose-6-sulfate sulfatase deficiency. It is an autosomal recessive inherited disease. Previous reports on clinical characteristics of Morquio A mainly focused on growth retardation, skeletal def...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer Health
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6160244/ https://www.ncbi.nlm.nih.gov/pubmed/30235707 http://dx.doi.org/10.1097/MD.0000000000012393 |